Genome editing in induced pluripotent stem cells rescues TAF1 levels in X-linked dystonia-parkinsonism.
Aleksandar RakovicAloysius DomingoKaren GrützLeonora KulikovskajaPhilipp CapetianSally A CowleyInsa LenzNorbert BrüggemannRaymond RosalesRoland Dominic Go JamoraArndt RolfsPhilip SeiblerAna WestenbergerInke KönigChristine KleinPublished in: Movement disorders : official journal of the Movement Disorder Society (2019)
(1) TAF1 reduction in X-linked dystonia-parkinsonism is likely due to the retrotransposon insertion and is recapitulated in induced pluripotent stem cells and differentiated spiny projection neurons. (2) TAF1 reduction is a tractable molecular phenotype of X-linked dystonia-parkinsonism that can be driven by excision of the retrotransposon insertion. (3) Successful rescue of the molecular phenotype in an endogenous, genome-edited model serves as a proof of principle that may successfully be transferred to other inherited neurodegenerative diseases. © 2018 International Parkinson and Movement Disorder Society.